Showing posts with label stanford. Show all posts
Showing posts with label stanford. Show all posts
Friday, October 8, 2010
Kif 6, Genetic Findings = Useful Medicine 1 in 1000 times
Way back in 2008 I mentioned an article, which I hoped would pan out. Or at least I hoped it would point the way to a model of PGx research which would be followed by pharma and alike to find associations to help us target the right medication for the right patient.
While the similar model followed through with Plavix, the initial study did not.
Which is why when the Berkeley Heart Lab guy came last week, I told him I would not be testing for Kif6. It had not been replicated in further GWAS.
A VAP cholesterol panel, a HsCRP, a family history and a blood pressure can help me predict risk much better.
The problem and backlash facing DTCG and DTMD genetic test purveyors is
the 'Ol "Your million dollar major study now rushed to market has just been refuted"
Yes this happens in biomedical science and in medicine ALL THE TIME.
Bed rest for MI anyone?
Low Dose Dopamine?
I could go on and on, but I won't
Put simply, the majority of the genome is NOT ready for clinical medicine or clinical decision making.
It won't be for 20 years.
That doesn't mean there aren't some things we can use.
1. BRCA1/2
2. MMR genes
3. CYP2C19
4. CYP2D6, sometimes.....
5. SCD genes
6. Counsyl universal carrier screening
If a gene test comes to market that purports disease risk it had better be studied for at least 5 years before it comes to market.
Post market surveillance did not protect all those patients on Statins, "just because" of Kif6 risk.
Get it? These tests can lead to incorrect medical decisions....
Which can lead to risk.
Yes, even the DTCG tests can fool doctors and patients.
The Sherpa Says: If 2008 was the year of the GWAS, will 2011 be the year of the overturned GWAS?
Posted by
Steve Murphy MD
at
3:37 PM
3
comments
Labels: celera genomics, genohype, gwas, kari stefansson, kif6, stanford, topol
Monday, April 30, 2007
Personalized Medicine in Hepatitis
From Stanford today a study results released showing the effectiveness of a genetic test indicating which patients infected with the Hepatitis C virus will progress to cirrhosis (destroyed shrunken liver). Until this study gastroenterologists had to guess which patients would develop this condition. None of the clinical factors including alcohol use or age at infection could accurately predict cirrhosis. This signature panel of 7 single nucleotide polymorphisms predicted risk better than clinical factors. Does that mean this test co developed by Celera Genomics is useful for all? Well....
- We need validation studies
- This was just evaluated on Caucasians
- We are getting closer
- Now if we could just get one of these for hepatocellular cancer
Posted by
Steve Murphy MD
at
4:23 PM
0
comments
Labels: celera genomics, cirrhosis, drudge report, genetic testing, Hepatitis C, hepatocellular cancer, liver, stanford
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